Journal article

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.

  • van de Putte R Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands. Romy.vandePutte@radboudumc.nl.
  • van Rooij IALM Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • Marcelis CLM Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
  • Guo M Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • Brunner HG Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
  • Addor MC Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland.
  • Cavero-Carbonell C Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.
  • Dias CM Epidemiology Department, National Institute of Health Doctor Ricardo Jorge, Lisbon, Portugal.
  • Draper ES Department of Health Sciences, University of Leicester, Leicester, UK.
  • Etxebarriarteun L Department of Health, Public Health Service, Basque Government Basque Country, Vitoria-Gasteiz, Spain.
  • Gatt M Malta Congenital Anomalies Register, Directorate for Health Information and Research, Pietà, Malta.
  • Haeusler M Department of Obstetrics and Gynecology, Medical University of Graz, Graz, Austria.
  • Khoshnood B INSERM UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (EPOPé), Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS), DHU Risks in Pregnancy, Paris Descartes University, Paris, France.
  • Klungsoyr K Department of Global Public Health and Primary Care, Division for Mental and Physical Health, Norwegian Institute of Public Health, University of Bergen, Bergen, Norway.
  • Kurinczuk JJ National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
  • Lanzoni M European Commission, Joint Research Centre (JRC), Ispra, Italy.
  • Latos-Bielenska A Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.
  • Luyt K South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK.
  • O'Mahony MT Department of Public Health, Health Service Executive - South, Cork, Ireland.
  • Miller N National Congenital Anomaly and Rare Disease Registration Service, Public Health England, Newcastle upon Tyne, UK.
  • Mullaney C Department of Public Health, HSE South East, Lacken, Kilkenny, Ireland.
  • Nelen V Provinciaal Instituut voor Hygiene (PIH), Antwerp, Belgium.
  • Neville AJ Registro IMER - IMER Registry (Emila Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara, Azienda Ospedaliero-Universitaria di Ferrara, Ferrara, Italy.
  • Perthus I Auvergne registry of congenital anomalies (CEMC-Auvergne), Department of clinical genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.
  • Pierini A Tuscany Registry of Congenital Defects (TRDC), Institute of Clinical Physiology - National Research Council/Fondazione Toscana Gabriele Monasterio, Pisa, Italy.
  • Randrianaivo H Register of Congenital Malformations of Reunion Island, CHU Réunion, St Pierre, France.
  • Rankin J Institute of Health and Society, Newcastle University, Newcastle, UK.
  • Rissmann A Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany.
  • Rouget F Brittany Registry of Congenital Anomalies, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), University Rennes, Rennes, France.
  • Schaub B French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France.
  • Tucker D CARIS, Public Health Wales, Singleton Hospital, Swansea, Wales, UK.
  • Wellesley D Wessex Clinical Genetics Department, Princess Anne Hospital, Southampton, UK.
  • Wiesel A Department of Pediatrics, Birth Registry Mainz Model, University Medical Center of Mainz, Mainz, Germany.
  • Zymak-Zakutnia N OMNI-Net Ukraine Birth Defects Program and Khmelnytsky City Children's Hospital, Khmelnytsky, Ukraine.
  • Loane M Centre for Maternal, Fetal and lnfant Research, lnstitute of Nursing and Health Research, Ulster University, Belfast, Northern lreland, UK.
  • Barisic I Centre of Excellence for Reproductive and Regenerative Medicine, Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia.
  • de Walle HEK University of Groningen, University Medical Center Groningen, Department of Genetics, EUROCAT Northern Netherlands, Groningen, The Netherlands.
  • Roeleveld N Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • Bergman JEH University of Groningen, University Medical Center Groningen, Department of Genetics, EUROCAT Northern Netherlands, Groningen, The Netherlands.
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  • 2019-09-10
Published in:
  • Pediatric research. - 2020
English BACKGROUND
The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes.


METHODS
A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT (Joint Research Centre-European Surveillance of Congenital Anomalies) central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL.


RESULTS
In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies.


CONCLUSION
The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.
Language
  • English
Open access status
green
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Persistent URL
https://sonar.ch/global/documents/158785
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